2021
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4
Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Human Molecular Genetics 2021, 31: 1430-1442. PMID: 34788807, PMCID: PMC9271223, DOI: 10.1093/hmg/ddab321.Peer-Reviewed Original ResearchConceptsC-terminusGenome-wide transcriptome analysisRahman syndromeUnderstanding of mutationsHistone H1.4Neuronal genesTranscriptome analysisAbnormal C-terminusFunctional categoriesFunctional characterizationNeuropeptide signalingN-terminusDe novo heterozygous mutationsSupport of pathogenicitySmall insertionsFunctional consequencesNovo heterozygous mutationRat hippocampal neuronsFrameshift mutationMutationsH1.4Rare genetic disorderSevere intellectual disabilityGenesClinical features
2016
Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development
Zhang W, Xia W, Wang Q, Towers AJ, Chen J, Gao R, Zhang Y, Yen CA, Lee AY, Li Y, Zhou C, Liu K, Zhang J, Gu TP, Chen X, Chang Z, Leung D, Gao S, Jiang YH, Xie W. Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development. Molecular Cell 2016, 64: 1062-1073. PMID: 27916660, DOI: 10.1016/j.molcel.2016.10.030.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBinding SitesChromatinCpG IslandsDNA-Binding ProteinsEmbryo, MammalianGene Expression Regulation, DevelopmentalGenomic ImprintingMaleMiceMouse Embryonic Stem CellsOvumPromoter Regions, GeneticProtein BindingProtein Interaction Domains and MotifsProtein IsoformsProto-Oncogene ProteinsSpermatozoaConceptsPrimordial germ cellsEmbryonic stem cellsCpG islandsChromatin bindingDNA demethylationMouse developmentDNA-binding modulesCXXC domainTET proteinsEarly embryosSomatic cellsN-terminusDevelopmental defectsShort isoformExclusive expressionTET1Germ cellsIsoform switchStem cellsDemethylationIsoformsCellsBindingImportant roleTerminus